Fibrous Dysplasia: An Epidemiological and Correlational Study of Anthropometric, Clinical, Treatment, and Genetic Data

What this Trial Is About

Fibrous dysplasia is a non-hereditary genetic condition characterized by areas of abnormal bone development where normal bone is replaced by fibrous tissue. This condition can vary widely in presentation, occurring as monostotic, polyostotic, or panostotic forms, and may be part of complex syndromes like McCune-Albright syndrome or Mazabraud syndrome. The condition arises from mutations in the GNAS gene, leading to a genetic mosaic state in affected individuals. This research aims to provide a detailed evaluation of patient characteristics, hospitalizations, and interventions, with a study group of over 200 patients to offer a comprehensive understanding of the condition and its genetic impacts. The study is observational and includes patients with fibrous dysplasia, McCune-Albright syndrome, and Mazabraud syndrome who have available clinical, radiological, surgical, and tissue biospecimen data. Two main patient groups are studied: those with clinical and surgical data and those with available tissue samples for molecular analysis. This approach allows for a broad assessment of the clinical features and genetic correlations related to these conditions. Participants' involvement includes the collection and analysis of clinical and radiological data, surgical procedure descriptions, and molecular studies of tissue samples. Researchers monitor surgical procedures, clinical features, genotype-phenotype correlations, post-intervention complications, and pain over four years. This detailed data collection aims to improve understanding of the disease's manifestations and outcomes, with ongoing observation throughout the study period.

Fibrous Dysplasia: An Epidemiological and Correlational Evaluation of Multimodal Data